Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ADAM17	gene	ADAM17	Expert Review Red;Victorian Clinical Genetics Services	Vasculitis		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328;Recurrent infections				22010916;29560122;26683521;25804906		False	1	0;0;100	0.86	True		ENSG00000151694	ENSG00000151694	HGNC:195													
APOA2	gene	APOA2	Expert Review Red;Victorian Clinical Genetics Services	Vasculitis		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Apolipoprotein A-II deficiency;{Hypercholesterolemia, familial, modifier of} MIM#143890				PMID: 12522687;2107739;25904114		False	1	0;0;100	0.86	True		ENSG00000158874	ENSG00000158874	HGNC:601													
CASP8	gene	CASP8	Expert Review Red;Victorian Clinical Genetics Services	Vasculitis		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Autoimmune lymphoproliferative syndrome, type IIB MIM#607271				12353035;25814141;12654726;17213198;16148088		False	1	0;0;100	0.86	True		ENSG00000064012	ENSG00000064012	HGNC:1509													
DNASE1	gene	DNASE1	Expert Review Red;Victorian Clinical Genetics Services	Vasculitis		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Systemic lupus erythematosus, susceptibility to} - MIM#152700						False	1	50;0;50	0.86	True		ENSG00000213918	ENSG00000213918	HGNC:2956													
MASP2	gene	MASP2	Expert Review Red;Victorian Clinical Genetics Services	Vasculitis		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	MASP2 deficiency, MIM# 613791						False	1	0;0;100	0.86	True		ENSG00000009724	ENSG00000009724	HGNC:6902													
MBL2	gene	MBL2	Expert Review Red;Victorian Clinical Genetics Services	Vasculitis		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Chronic infections, due to MBL deficiency} 614372						False	1	0;0;100	0.86	True		ENSG00000165471	ENSG00000165471	HGNC:6922													
NOD2	gene	NOD2	Expert Review Red;Victorian Clinical Genetics Services	Vasculitis		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Blau syndrome, MIM# 186580				15459013;23699845		False	1	0;0;100	0.86	True		ENSG00000167207	ENSG00000167207	HGNC:5331													
WDR1	gene	WDR1	Expert Review Red;Victorian Clinical Genetics Services	Vasculitis		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550;Neutropaenia;Poor wound healing;Severe stomatitis;Neutrophil nuclei herniate;Autoinflammatory periodic fever;Thrombocytopaenia				27994071;27557945;29751004		False	1	0;0;100	0.86	True		ENSG00000071127	ENSG00000071127	HGNC:12754